ECD ecdysoneless cell cycle regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: ECDprovided by HGNC
Official Full Name: ecdysoneless cell cycle regulatorprovided by HGNC
Primary source: HGNC:HGNC:17029
See related: Ensembl:ENSG00000122882 MIM:616464; AllianceGenome:HGNC:17029
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GCR2; SGT1; HSGT1
Summary: Enables histone acetyltransferase binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in testis (RPKM 14.0), thyroid (RPKM 12.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (73133668..73168095, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (74005060..74039488, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (74893426..74927853, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ecdysoneless Overexpression Drives Mammary Tumorigenesis through Upregulation of C-MYC and Glucose Metabolism.
Title: Ecdysoneless Overexpression Drives Mammary Tumorigenesis through Upregulation of C-MYC and Glucose Metabolism.
ECD promotes gastric cancer cell invasion and metastasis by preventing E3 ligase ZFP91-mediated hnRNP F ubiquitination and degradation.
Title: ECD promotes gastric cancer metastasis by blocking E3 ligase ZFP91-mediated hnRNP F ubiquitination and degradation.
The interaction of ECD with RUVBL1, and its CK2-mediated phosphorylation, independent of its interaction with PIH1D1, are important for its cell cycle regulatory function.
Title: A Novel Interaction of Ecdysoneless (ECD) Protein with R2TP Complex Component RUVBL1 Is Required for the Functional Role of ECD in Cell Cycle Progression.
Ecdysoneless and H-Ras expressing human mammary epithelial cells form tumors in NOD/SCID mice.
Title: The cell cycle regulator ecdysoneless cooperates with H-Ras to promote oncogenic transformation of human mammary epithelial cells.
TXNIP has a role in the pathway involving hEcd to increase p53 stability and activity
Title: TXNIP interacts with hEcd to increase p53 stability and activity.
Ecd is a novel tumor-promoting factor that is differentially expressed in pancreatic cancer and potentially regulates glucose metabolism within cancer cells.
Title: Overexpression of ecdysoneless in pancreatic cancer and its role in oncogenesis by regulating glycolysis.
Ecd as a novel marker for breast cancer progression and show that levels of Ecd expression predict poorer survival in Her2/neu overexpressing breast cancer patients.
Title: Overexpression of a novel cell cycle regulator ecdysoneless in breast cancer: a marker of poor prognosis in HER2/neu-overexpressing breast cancer patients.
Ecd localizes to both nucleus & cytoplasm & shuttles between the nucleus and cytoplasm; however, it exhibits strong nuclear export. Based on previous yeast studies & evidence provided here, we suggest that Ecd functions as a transcriptional regulator.
Title: Biochemical characterization of human Ecdysoneless reveals a role in transcriptional regulation.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone acetyltransferase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein ecdysoneless homolog

Names: ecdysoneless homolog; human suppressor of GCR two; protein SGT1; suppressor of GCR2; suppressor of S. cerevisiae gcr2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001135752.1 → NP_001129224.1 protein ecdysoneless homolog isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) omits an in-frame coding exon compared to variant 1 resulting in a shorter protein isoform (2).

Source sequence(s)

AK225519, AK315711, BC103720, BM763002

Consensus CDS

CCDS44434.1

UniProtKB/TrEMBL

B3KMT5

Related

ENSP00000401566.1, ENST00000430082.6

Conserved Domains (1) summary

pfam07093
Location:14 → 630

SGT1; SGT1 protein
NM_001135753.1 → NP_001129225.1 protein ecdysoneless homolog isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant includes an additional in-frame coding exon compared to variant 1 resulting in a longer protein isoform (3).

Source sequence(s)

AK225519, BC000721, BC103720, BM763002

Consensus CDS

CCDS44433.1

UniProtKB/TrEMBL

B3KMT5

Related

ENSP00000395786.1, ENST00000454759.6

Conserved Domains (1) summary

pfam07093
Location:14 → 554

SGT1; SGT1 protein
NM_007265.3 → NP_009196.1 protein ecdysoneless homolog isoform 1

See identical proteins and their annotated locations for NP_009196.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents a more abundant transcript and encodes isoform 1.

Source sequence(s)

AC016394, BC103720, D88208

Consensus CDS

CCDS7321.1

UniProtKB/Swiss-Prot

C9JX46, E9PAW8, O95905

UniProtKB/TrEMBL

B3KMT5

Related

ENSP00000362070.4, ENST00000372979.9

Conserved Domains (1) summary

pfam07093
Location:14 → 597

SGT1; SGT1 protein

RNA

NR_024203.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) omits the first coding exon and an additional coding exon compared to variant 1. The transcript is a candidate for nonsense-mediated decay (NMD).

Source sequence(s)

BC000721, BC103720, BM763002

Related

ENST00000484976.6